BCM-HGSC in the News

Next-generation sequencing performed at HGSC zeroed in on the gene that caused a genetic disorder for twins Noah and Alexis Beery, enabling physicians to hone their treatment. In this update published in BCM's Momentum blog, Retta Beery recalls the medical odyssey of her twin children and the life-changing results of whole genome sequencing.

In partnership with HGSC, researchers at the University of Melbourne have decoded the genome of the Australian sheep blowfly, Lucilia cuprina, adding ammunition to the battle against one of that nation's most insidious pests.

Around 2,000 genes not seen before in any other organism were discovered. These genes can now be investigated as potential drug and vaccine targets. This blowfly is responsible for over $200 million in losses to Australia's sheep industry each year from flystrike.

DNAnexus and the Human Genome Sequencing Center will co-develop HgV, the next generation of the HGSC's Mercury solutions pipeline. HgV is a comprehensive framework for large-scale high-throughput whole genome sequence analysis in the settings of precision medicine research and clinical applications.

Baylor‘s Human Genome Sequencing Center will help Mayo Clinic sequence the DNA of Mayo biobank members for 69 different genes that can influence how patients’ metabolize or react to different drugs.

The goal is to determine which “pharmacogenomic” findings are relevant to the individual patient and to insert that information into their medical records – providing an “early warning system” to prevent adverse drug reactions or ineffective treatments.

“Frame shift” – the insertion of genetic material that interrupts the recipe for a particular protein -- could explain many cases of a rare disorder called Robinow syndrome for which there is currently no molecular explanation, said an international consortium of researchers led by those from Baylor College of Medicine in a report that appears online in the journal American Journal of Human Genetics.

When a team led by Drs. Claudia M.B. Carvalho and James Lupski at Baylor in collaboration with Dr. Han G. Brunner of Radboud University Medical Center in Nijmegen, The Netherlands began looking at more patients, they sequenced the exomes of many in the Human Genome Sequencing Center and found mutations in one copy of a gene called DVL1 in eight subjects.

When marine mammals such as whales, dolphins, manatees and walruses moved from land to water, a series of physical abilities –– limbs adapted for swimming, less dense bones that make them more buoyant and a large store of oxygen relative to their body size – made it possible. Yet these animals made the transition from land to water millions of years apart.

In a report that appears online in the journal Nature Genetics, an international consortium of researchers that includes those at Baylor College of Medicine looked at the genomes of these four marine mammals and compared them to their closest land kin.

An international research collaboration that included the Baylor College of Medicine Human Genome Sequencing Center has demonstrated a larger than expected role of genes in the development of cerebral palsy.

It has long been believed that cerebral palsy is the result of a lack of oxygen for a child during birth; however, the team at the Human Genome Sequencing Center at Baylor, in collaboration with clinicians based at the University of Adelaide, Australia, have found at least 14 percent of patients in a group of cerebral palsy cases, are likely caused by a genetic mutation.

An international consortium of researchers led by Baylor College of Medicine has identified for the first time a gene associated with familial glioma (brain tumors that appear in two or more members of the same family) providing new support that certain people may be genetically predisposed to the disease.

Dr. Matthew Bainbridge, first author on the report, combed through the sequencing data and identified mutations in a gene called POT1, which was present in two of the families.

An international collaboration of scientists including Dr. Stephen Richards at the Baylor College of Medicine Human Genome Sequencing Center has completed the first genome sequence of a myriapod, Strigamia maritima—a member of a group venomous centipedes that care for their eggs—and uncovered new clues about their biological evolution and unique absence of vision and circadian rhythm.

“The novelty of this study involves associating mutation patterns with different ethnic groups,” said Dr. David Wheeler, professor in the Baylor College of Medicine Human Genome Sequencing Center and a corresponding author of the report.